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World Down Syndrome Day 2021

World Down syndrome day is celebrated on the 21st of March every year. Down Syndrome is the most common genetic disorder all over the world. It occurs due to an extra copy of chromosome 21, of which there are three copies instead of two (hence this disorder is also called Trisomy 21).

The fetus normally gets one set of chromosomes, that is, 23 each from both the parents - making it 46 in total. In Downs syndrome, due to a genetic error called non-dysjunction, one of the parents contribute an extra 21st chromosome to the baby. The date 21st of March (21/3) denotes this abnormality.

Though the possibility of a baby being born with Down syndrome is more common among older mothers (aged more than 40years), it can occur in pregnancies at any age. All pregnant women are therefore screened for Down Syndrome with blood tests and Ultrasound scans during the early pregnancy.

Diagnosis after birth is based on clinical findings and genetic testing in the form of Karyotyping. These babies would need immediate attention because many of them will have associated abnormalities. About half of them may have cardiac and thyroid abnormalities, about one third of them may have hearing and eye related issues. They should be screened and if any of these defects are found should be corrected with appropriate treatment and followed up at regular intervals.

Almost all of them would need support for development - they should be guided by a child development team for both physical and mental development right from early infancy. They are also at a higher risk of infections, anemia and leukemia. Hence regular monitoring will be required to pick up these conditions early.

They may also need special care during adolescence and pubertal development. Particular attention has to be given towards mental health because issues like depression may occur at this age group.

Once the diagnosis is confirmed, the family should be counselled regarding the condition and a comprehensive plan should be given to them. Not only the parents but everyone in the family should be counselled with respect to this child's care. They should be given emotional and social support and misconceptions should be alleviated. They should be made to understand that children with Down Syndrome can lead normal lives and can grow up into being productive adults.

These children are fun-loving and enjoy music. Though they all need support, many of them can go to regular schools and do well in terms of getting jobs and being self-sufficient. Care of the child with Down Syndrome needs long term support and commitment from the family as well as the multi-disciplinary team of health-care professionals.

The general outlook for these children is excellent and it is the responsibility of each one of us to be empathetic and supportive to these children and their families. As a society, we need to create awareness and develop a positive attitude towards people with Down Syndrome and encourage their families and provide them with the necessary information and resources.

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